{
  "abstract": "Adenosine deaminase 2 deficiency (DADA2) is an inborn error of immunity leading to systemic vasculitis, haematological manifestations, immune deficiency and/or autoimmunity. We report the case of a 26-year-old female with an initial diagnosis of systemic lupus erythematosus (SLE). However, atypical evolution patterns for SLE (hypogammaglobulinaemia, moderate B-cell lymphopenia, disappearance of anti-dsDNA) led to the identification of a homozygous class 5 missense variant of CECR1/ADA2, thus to a final diagnosis of DADA2. Strikingly, the patient was treated with anifrolumab (an anti-interferon alpha receptor 1 antibody) that rapidly induced clinical remission and significant corticosteroid tapering. Consistently, we show a lower type I interferon (IFN-I) score and a persistently low tumour necrosis factor α (TNFα) and IL-6 expression levels in whole blood cells of the patient during anifrolumab compared to anti-TNFα. Altogether, this case (1) illustrates the challenging diagnosis of DADA2 (SLE with hypogammaglobulinaemia) and (2) reinforces DADA2 as a disease at the border with type I interferonopathies. Besides, we report here, to our knowledge, the first description of a successful use of anifrolumab in DADA2, paving the way for further studies to validate this therapeutic approach.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "name": "Loris Vincenti"
    },
    {
      "name": "Jonathan Sormani"
    },
    {
      "name": "Alexandre Belot"
    },
    {
      "name": "Maël Richard"
    },
    {
      "name": "Yoann Roubertou"
    },
    {
      "name": "Natacha Grienay-Poletto"
    },
    {
      "name": "Anne Perrine Foray"
    },
    {
      "name": "Anaïs Nombel"
    },
    {
      "name": "Isabelle Durieu"
    },
    {
      "name": "Quitterie Reynaud"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6g5vnhjf6g26s.bib",
  "cited_by": 0,
  "doi": "10.1136/rmdopen-2025-006569",
  "fulltext_url": null,
  "id": "6g5vnhjf6g26s",
  "issns": [
    "2056-5933"
  ],
  "landing_url": "https://hal.science/hal-05751863v1",
  "language": "en",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "1.sdv.spee"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7167510716",
  "pdf_url": "https://rmdopen.bmj.com/content/12/3/e006569.full.pdf",
  "pmcid": null,
  "pmid": "42409574",
  "published": "2026-07-06",
  "publisher": "BMJ Publishing Group",
  "ris": "https://research.draconitic.com/paper/6g5vnhjf6g26s.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:35Z",
      "native_id": "hal-05751863",
      "source": "hal",
      "url": "https://hal.science/hal-05751863v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "hal:0.sdv",
      "subfield": "general"
    },
    {
      "field": "medicine",
      "origin": "hal:1.sdv.spee",
      "subfield": "epidemiology-public-health"
    }
  ],
  "title": "Anifrolumab, a potential treatment for ADA2 deficiency",
  "title_text": "Anifrolumab, a potential treatment for ADA2 deficiency",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:35Z",
  "url": "https://research.draconitic.com/paper/6g5vnhjf6g26s",
  "venue": "RMD Open",
  "versions": []
}